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Hereditary ataxia

Region: ISCA-37404-Loss

15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss

No list
Chromosome: 15
GRCh38 Position: 22782170-28134728
Haploinsufficiency Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score:
Required percent of overlap: 60%
Variant types: CNV Loss

1 review

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Removing this region as it has been deprecated by ClinGen and has been subsumed into ISCA-37478 which is green on multiple GMS panels (https://panelapp.genomicsengland.co.uk/panels/entities/ISCA-37478-Loss)
Created: 12 Nov 2025, 2:47 p.m. | Last Modified: 12 Nov 2025, 2:47 p.m.
Panel Version: 1.343
The required percent of overlap for this region has been changed from 80% to 60% and the genomic location has been updated inline with ClinGen following NHS Genomic Medicine Service approval.
Created: 16 Mar 2022, 12:54 p.m. | Last Modified: 16 Mar 2022, 12:54 p.m.
Panel Version: 1.299
Created: 16 Mar 2022, 12:54 p.m.
Last Modified: 16 Mar 2022, 12:54 p.m.
Panel version: 1.299

Details

ISCA ID
ISCA-37404-Loss
ISCA Region Name
15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss
Chromosome
15
GRCh38 Coordinates
22782170-28134728
Haploinsufficiency Score
Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score
Required percent of overlap
60%
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Removed
  • ClinGen
Phenotypes
  • microcephaly
  • Developmental delay, muscle weakness
  • Mental retardation
  • Angelman syndrome
  • 176270
  • Prader-Willi syndrome
  • 105831
Tags
curated_removed
Clinvar variants
Variants in
Penetrance
None
Variant types
CNV Loss
Publications

History Filter Activity

12 Nov 2025, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag curated_removed tag was added to Region: ISCA-37404-Loss.

12 Nov 2025, Gel status: 0

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Region: isca-37404-loss has been removed from the panel.

16 Mar 2022, Gel status: 3

Changed GRCh38, Changed Required Overlap Percentage

Arina Puzriakova (Genomics England Curator)

GRCh38 position for ISCA-37404-Loss was changed from 22782170-28134729 to 22782170-28134728. Required Overlap Percentage for ISCA-37404-Loss was changed from 80 to 60.

7 Sep 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Region: ISCA-37404-Loss was added Region: ISCA-37404-Loss was added to Hereditary ataxia. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37404-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37404-Loss were set to 22045295; 7611294 Phenotypes for Region: ISCA-37404-Loss were set to microcephaly; Developmental delay, muscle weakness; Mental retardation; Angelman syndrome; 176270; Prader-Willi syndrome; 105831